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DNA多态性诊断额外染色体和46,XX/46,XY嵌合体起源
引用本文:崔英霞,王咏梅,姚兵,朱培元,黄宇烽.DNA多态性诊断额外染色体和46,XX/46,XY嵌合体起源[J].医学研究生学报,2004,17(9):775-778.
作者姓名:崔英霞  王咏梅  姚兵  朱培元  黄宇烽
作者单位:南京军区南京总医院解放军医学检验中心,江苏南京,210002
摘    要:目的:了解额外染色体和46,XX/46,XY嵌合体的起源。方法:用短重复序列(STR)分别对核型为47,XX, 21和46,XX的一对孪生姐妹、47,XY, 13男婴、46,XX/46,XY嵌合体的患儿进行检测。结果:47,XX, 21和46,XX的孪生姐妹15个STR位点检测显示有8个位点不一致,孪生姐姐的D21S11位点有3个微卫星标记物,其中2个源自母亲。47,XY, 13患儿的D13S317位点有3个微卫星标记物,其中2个源自父亲。46,XX/46,XY患儿8个位点显示父源的2个微卫星标志物,13个位点显示母源的1个标记物。结论:47,XX, 21和46,XX为双卵孪生姐妹,孪生姐姐额外21号染色体源自母亲的第一次减数分裂不分离。47,XY, 13患儿额外13号染色体源自父亲的第一次减数分裂不分离。46,XX/46,XY患儿检测结果可解释为其母卵子经孤雌分裂产生了2个DNA相同的配子,分别与X和Y精子受精,产生2个合子在发育的早期阶段融合成1个胚胎。

关 键 词:短重复序列  微卫星标记物  额外染色体  46,XX/46,XY嵌合体
文章编号:1008-8199(2004)09-0775-04
修稿时间:2004年3月31日

Polymorphic detection of the origins of an extra chromosome and a 46,XX/46,XY chimerism
CUI Ying-xia,WANG Yong-mei,YAO Bing,ZHU Pei-yuan,HUANG Yu-feng.Polymorphic detection of the origins of an extra chromosome and a 46,XX/46,XY chimerism[J].Bulletin of Medical Postgraduate,2004,17(9):775-778.
Authors:CUI Ying-xia  WANG Yong-mei  YAO Bing  ZHU Pei-yuan  HUANG Yu-feng
Abstract:Objective:To investigate the origins of an extra chromosome and a 46,XX/46,XY chimerism. Methods:Short tandem repeats were detected from the twin girls with 47,XX,+21 and 46,XX, the neonatal boy with 47,XX,+13 and a chimerism with 46,XX/46,XY respectively. Results:The elder sister differed from younger sister in 8 STR loci. Three alleles were found from the elder sister in locus D21S11 and two from the mother. Three alleles were observed in the locus D13S317 from the neonatal boy with 47,XX,+13 and two from the father. With respect to the chimerism with 46,XX/46,XY, 8 STR loci clearly demonstrated the inheritance of the two paternal alleles and 13 STR loci of a single maternal allele in comparision with those of the parents. Conclusion:The twin girls originate from dizygote and the extra chromosome 21 of the elder sister is from nondisjunction during the first meiotic division of the mother. The extra chromosome 13 of the neonatal boy with 47,XX,+13 is from nondisjunction during the first meiotic division of the father .A parthenogenetic division of a haploid nucleus, to give two identical nuclei followed by fertilization of two spermatozoa and fusion of the two zyogate at early stage of life is the most likely explanation for the chimerism with 46,XX/46,XY.
Keywords:Short tandem repeat  Microsatellite marker  Extra chromosome  46  XX/46  XY  chimerism
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